Management of Beta Thalassaemia in Pregnancy

Question 1

In the RCOG GTG- what do they classify as thalassaemia major vs intermedia women?

Answer 1

Thalassaemia major women are
those who require >7 transfusion episodes per year and thalassaemia intermedia women are those needing < or = 7 transfusion episodes per year or those who are not transfused

Question 2

How many babies are born with thalassaemia worldwide each year?

Answer 2

70,000 babies

Question 3

How many individuals are there who are asymptomatic thalassaemia carriers?

Answer 3

100 million

Question 4

What is the basic defect in the thalassaemia syndromes?

Answer 4

The basic defect in the thalassaemia syndromes is reduced globin chain synthesis with the resultant red cells having inadequate haemoglobin content

Question 5

What is thalassaemia major?

Answer 5

(homozygous β thalassaemia) results from the inheritance of a defective β globin gene
from each parent. This results in a severe transfusion-dependent anaemia.

Question 6

What are the risks of multiple transfusions?

Answer 6

Iron overload- resulting in hepatic, cardiac and endocrine dysfunction-> the anterior pituitary is v sensitive to iron overload leading to delayed/incomplete puberty, resulting in low bone mass, hypogonadotrophic hypogonadism

Question 7

Why may B thalassaemia women be subfertile?

Answer 7

hypogonadotrophic hypogonadism due to multiple transfusions causing iron overload- may need ovulation induction therapy with gonadotrophin to achieve a pregnancy

Question 8

Cardiac failure from iron overload is the primary cause of death in _____ of cases.

Answer 8

Over 50%

Question 9

How has mortality from cardiac iron overload reduced ?

Answer 9

Improved transfusion techniques, effective chelation protocols, MRI for monitoring cardiac (Cardiac T2) and hepatic iron overload (liver T2) and FerriScan liver iron assessment.

Question 10

How many individuals are affected by thalassamia major other intermedia syndrome in the UK?

Answer 10

approx 1000 individuals

Question 11

Currently the Asian communities of India, Pakistan and Bangladesh account for ___% of
thalassaemia births with only 7% occurring in the Cypriot population

Answer 11

79%

Question 12

What are the additional risks to the woman and baby?

Answer 12

*cardiomyopathy in the mother
* FGR
* Women with T Major may develop new endocrinopathies (due to little/no chelation for 9/12)- diabetes mellitus, hypothyroidism, hypoparathyroidism due to increasing iron burden

Question 13

What does pre-conception evaluation involve ?

Answer 13

The preconception evaluation involves
- a review of transfusion requirements
- compliance with chelation therapy
- assessment of the body iron burden. The assessment should include optimisation of management and screening for end-organ damage

Question 14

Interventions beneficial at pre-conception stage?

Answer 14

Aggressive chelation in the preconception stage can reduce and optimise body iron burden and reduce end-organ damage.

Question 15

Why is HbA1c not a reliable marker of glycemic control for adults with thalassaemia?

Answer 15

As it is diluted by transfused RBC and results in underestimation- so serum fructosamine is preferred for monitoring

Question 16

What is the ideal serum fructosamine concentration for women with established diabetes mellitus? (diabetes in women with thalassaemia)

Answer 16

<300nmol/L for at least 3 months prior to conception

Question 17

How should the cardiac status of women with thalassaemia be assessed?

Answer 17

• assessment by a cardiologist with expertise in thalassamia +/- iron overload prior to pregnancy
• ECHO
• ECG
• T2 Cardiac MRI